CAS BI 105 Lecture Notes - Lecture 20: Homologous Chromosome, Gregor Mendel, Punnett Square

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raspberryserval680

30 Apr 2018

School

Boston University

Department

Biology

Course

CAS BI 105

Professor

Elizabeth Ann Stanford

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Genetics

Genetic Gambling

•For every gene that you have, you inherit 2 alleles (one from mom, one from dad)

•The of each parents’ chromosomes into gametes is random

How do our cells decide which to express?

•Gene: a sequence of DNA that controls a single functional unit (protein)

•Allele: a version of a gene

•Trait: a single characteristic (may be controlled by 1 or many genes)

Genotype

•Homo- same

•Hetero- different

•Zygo- joining “embryotic”

Haploid/ Diploid

•We have 46 chromosomes (diploid) 2 copies of each —> 23 unique chromosomes (haploid)

•Each chromosome has the same genes, but can have different alleles

•If you have the same allele on both chromosomes, you are homozygous for that allele

•If you have different alleles on the two chromosomes, you are heterozygous

Single-Gene Traits

•9,000 human traits exhibit single-gene pattern of inheritance

•When sperm + egg make a fertilized egg (egg —> fetus —> baby —> you) each gamete contributes 1

chromosome

•This results in homologous chromosomes (2 copies of each chromosome)

Homologous and Alleles

•Each homologous chromosome contains an allele of a gene

•This can result in two copies of each gene: two alleles twice or two different alleles

Recessive v. Dominant

•Dominant: protein will be made (gene is expressed)

•Recessive: protein will only be made if there is no dominant allele

Gregor Mendel

•3 ideas

•Rather than passing on the trait itself, each parent passes on instructions for building the trait

•Offspring will receive two copies of the instructions for every trait

•The trait observed depends on the set of instructions

•Led to 3 BIG ideas

•Recessive v. Dominance

•Law of Segregation

•Law of Independent Assortment

•Phenotype and Genotype

•It can be difficult to tell a genotype form the phenotype alone

•Albinism is caused by 2 recessive alleles

•ex: Is a non-albino homozygous or heterozygous for melanin pigment?

•answer: there is no melanin and no pigment so this is homozygous

Punnett Squares

•Outline the offspring that can result from two parents

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Document Summary

Genetic gambling: for every gene that you have, you inherit 2 alleles (one from mom, one from dad, the of each parents" chromosomes into gametes is random. How do our cells decide which to express: gene: a sequence of dna that controls a single functional unit (protein, allele: a version of a gene, trait: a single characteristic (may be controlled by 1 or many genes) Genotype: homo- same, hetero- different, zygo- joining embryotic . Homologous and alleles: each homologous chromosome contains an allele of a gene, this can result in two copies of each gene: two alleles twice or two different alleles. Recessive v. dominant: dominant: protein will be made (gene is expressed, recessive: protein will only be made if there is no dominant allele. Punnett squares: outline the offspring that can result from two parents, show all the possible gametes, autosomal-recessive traits, albinism, cystic fibrosis, hairline shape, tay sachs, rh factor on rbcs.

Related Questions

Ploidy refers to the number of complete sets of chromosomes (genes) present in a cell. The number of chromosomes in a complete set is a fixed characteristic of a species. Humans are diploid with two sets of 23 chromosomes. Fruit flies are diploid with two sets of 4 chromosomes. Sexually reproducing organisms are diploid, each somatic cell of an organism has two complete sets ("di" is a prefix indicating 2.). To complete a life cycle and reproduce new members of a species, mating is required. Mating brings a donation from a male and a donation from a female together. However, if the male and female cells remain diploid, the fertilization will result in a tetraploid zygote. In general, these are not viable. A mechanism is needed to form special haploid cells, gametes. The diploid set is split precisely into two complete haploid sets. That mechanism is meiosis.

The complete set of chromosomes of a species is also the complete set of genes of a species, the genome. (Yes, there is a minor contribution from mitochondria and chloroplasts. Inheritance of this information is "cytoplasmic".)

Please answer the following questions:

1. How many chromosomes in a brain cell of a fruit fly? How many chromosomes are in a liver cell of a human? Explain both answers.

2. How many chromosomes are in a fruit fly unfertilized egg? How many chromosomes are in a human egg? Explain both answers.

3. Why is meiosis necessary for sexually reproducing organisms? How many chromosomes are in a human zygote? Relate the two answers.

4. What is a gene allele? Suppose there is a gene called "bingo" and it is present once in a complete haploid set. How many alleles of "bingo" does a diploid individual have? How many copies or versions of the gene "bingo" are present in a diploid individual?

5. Modern DNA sequencing clearly identifies alleles by showing the different DNA sequence of each allele. These alleles may be termed structural alleles (I coined the term for this problem.). Classical genetics only dealt with phenotypes or visible traits. As a result, alleles of genes were identified by functionality, usually normal or non-functional. Using your knowledge of gene structure and gene expression, postulate a relationship between structural alleles and functional alleles. (include relative amounts; more, less, or equal).

Homozygous recessive loss of function mutations in any one of 4 different genes in C. elegans worms (genes A, B, C, or D) results in female worms that don't form proper egg-laying structures, called vulvas, as shown in Lines 2-5 of the data table below. In vulvaless females, the fertilized eggs hatch and baby worms develop inside the mother, killing her in the process.

	genotype	phenotype
1	AA BB CC DD (wild type)	normal vulva
2	aa BB CC DD	No vulva
3	AA bb CC DD	no vulva
4	AA BB cc DD	no vulva
5	AA BB CC dd	no vulva

You would like to figure out the order in which these genes act during the creation of the vulva (you cannot assume it will be A--->B--->C--->D as the gene names are arbitrary). Your friend tells you to perform epistasis analysis by making double mutants between the different homozygous recessive mutants and analyzing the phenotype of the double mutant. For example, she asks you to examine the phenotype of aabbCCDD (double mutant of genes A and B) and compare this to the single mutants to figure out whether gene A acts earlier than gene B, or vice versa. You know this won't work. Why not? Pick the ONE BEST choice:

a. The phenotype of the single mutant is already pretty severe. The double mutant will most likely be dead, therefore epistasis analysis won't be possible.

b. Each of the single mutants (aaBBCCDD) and (AAbbCCDD) has the same mutant phenotype i.e., no vulva. Epistasis analysis between any 2 genes is only possible when the mutant phenotypes for each gene is different.

c. Epistasis analysis involves making triple mutants (such as aabbccDD) in order to learn something about how the genes are ordered.

d. Epistasis analysis can never be carried out with null loss of function mutations. The mutations being analyzed all have to be dominant gain of function alleles.

To address your concern, you first generate overactive alleles of either gene A (denoted as A*) or gene B (denoted as B*). As shown in lines 6-7 of the table below, C. elegans that have one of these overactive alleles produce multiple vulvas.

	Genotype	Phenotype
6	A*A BB CC DD	multiple vulvas
7	AA B*B CC DD	multiple vulvas

To find out the order in which these genes act, you combine the overactive alleles with different loss of function alleles and observe the phenotype in double mutants (see Lines 8-11).

	Genotype	Phenotype
8	A*A bb CC DD	multiple vulvas
9	A*A BB cc DD	multiple vulvas
10	A*A BB CC dd	no vulva
11	AA B*B cc DD	multiple vulvas

Based on the data in the table, what is the order in which these 4 genes normally act in wild-type C. elegans in order to produce a wild-type/normal vulva?

a. A----> B----->C----->D ---> Vulva

b. D----> B----->C----->A----> Vulva

c. B----> C----->A----->D----> Vulva

d. C----> B----->A----->D----> Vulva

e. C----> B----->D----->A----> Vulva

f. don't have enough data to make any conclusions

Based on the vulva formation phenotype of the double mutants, which of the following statement(s) accurately describes the genetic interactions between the A* allele and alleles of other genes affecting vulva formation? Pick ALL that apply:

a. The A* allele is epistatic to homozygous recessive loss of function mutations in gene B

b. A homozygous recessive loss of function mutation in gene B is epistatic to the A* allele

c. Homozygous recessive loss of function mutation in gene D is epistatic to the A* allele

d. The A* allele is epistatic to homozygous recessive loss of function mutation in gene D

e. The A* allele enhances the homozygous recessive loss of function mutation in gene D

What is a genome? What is a genome made of? Describe the bacterial genome. How do bacteria reproduce? What is binary fission? Distinguish between a chromosome and chromatin. Where are chromosomes located in eukaryotic cells? What is the chromosome made of? What is a centromere? What is the centromere's role? What are sister chromatids and how do they arise? Distinguish between somatic cells and germ (gametes) cells. Describe the cell cycle. What are the different phases? What occurs during S phase? What is interphase? How is the cell cycle controlled?

Describe mitosis. What are the phases of mitosis? What occurs in each of the phases of mitosis? What is cytokinesis? How does this differ between plant and animal cells? What is a kinetochore? Where does it form? What is its role? What is the role of microtubules in mitosis? What is a centriole and what is it composed of? What is a centrosome and what is its role in mitosis? What is the metaphase plate and why is this important? What is the mitotic spindle, its role and its makeup? What defines a diploid cell? How many copies of each chromosome is in a diploid cell? What about a haploid cell? Why do the daughter cells of mitosis always have the same complement of chromosomes?

Describe meiosis. What are the phases of meiosis? What occurs in each of the phases of meiosis? Distinguish between meiosis I and meiosis II and describe how each of these processes compare to mitosis. Why do animal cells undergo meiosis? What is a gamete? What is a zygote? What are recombination, crossing-over, and chiasma? When and why does this occur? What is meant by 'homologous pair of chromosomes'? Why don't the daughter cells of meiosis have the same genetic makeup? What controls the segregation of chromosomes into the gametes?

What are genetic characters? What are genetic traits? What is an allele? What is a locus? How many alleles at each locus would a human cell have and why? Distinguish between genotype and phenotype. What is meant by a dominant gene? What is meant by a recessive gene? How do these differ? What is the genotype of a homozygous dominant organism? What is its phenotype? What is the genotype of a homozygous recessive organism? What is its phenotype? What is the genotype of a heterozygous organism? What is its phenotype? What is a genetic cross? Distinguish between the P, F1, and F2 generations. What is a true-breeding line? What is the genotype and phenotype of a cross between homozygous dominant and homozygous recessive parents? If the F1 progeny are crossed, what would be the genotype and phenotype of the F2 generation? What would be the phenotypic ratio? What would be the genotypic ratio? Be ready to generate Punnet square tests or probability analyses of crosses involving more than one genetic locus. Describe a dihybrid cross where two alleles are homozygous dominant in one parent and homozygous recessive in the other. What would be the phenotypic ratio of the F2 generation from this dihybrid cross? What is meant by independent assortment? Be prepared to calculate probabilities resulting from different crosses.

Distinguish between complete and incomplete dominance. How would incomplete dominance alter the results of a hybrid cross? What would the resulting F2 generation phenotype and genotype ratios be? What is codominance? How does this affect the results of crosses? Be prepared to determine likely blood types of parents based on the blood types of their offspring. What is a polygenic trait? What is a carrier state for a genetic disease? What is meant by linked genes? How does this affect expected outcomes of genetic crosses? How is gene linkage used for chromosomal mapping? Distinguish between autosomes and sex chromosomes. What sex chromosomes are found in women? What sex chromosomes are found in men? What are sex-linked traits? Be prepared to give the results of crosses that involve sex-linked recessive traits. What is the process of nondisjunction? What are the likely results? Why is this important? What is a Barr body? Recognize the genetic abnormality of Downs Syndrome, Turner's Syndrome, and Klinefelter's Syndrome.

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CAS BI 105 Lecture Notes - Lecture 20: Homologous Chromosome, Gregor Mendel, Punnett Square

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